dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17470765 (AFR)
Genomes Max Group AF
0.17470765 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74461713C>T , CM000670.2:g.74461713C>T | GRCh38 |
| NC_000008.10:g.75373948C>T , CM000670.1:g.75373948C>T | GRCh37 |
| NC_000008.9:g.75536503C>T | NCBI36 |
| NG_008787.2:g.145584C>T | |
| NG_008787.3:g.145584C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523640.2:c.166-26965C>T | ENSP00000502017.1:n.166-26965C>T | |
| ENST00000524195.2:c.281-26965C>T | ENSP00000502308.1:n.281-26965C>T | |
| ENST00000674710.1:c.872+10684C>T | ENSP00000502762.1:n.872+10684C>T | |
| ENST00000674756.1:c.*486+22970C>T | ENSP00000501860.1:n.*486+22970C>T | |
| ENST00000674946.1:c.814+22970C>T | ENSP00000501569.1:n.814+22970C>T | |
| ENST00000675560.1:c.*367-32447C>T | ENSP00000502118.1:n.*367-32447C>T | |
| ENST00000676207.1:c.695-26965C>T | ENSP00000502638.1:n.695-26965C>T | |
| ENST00000524195.1:n.104-26965C>T | ||
| NM_001362931.1:c.695-26965C>T | NP_001349860.1:n.695-26965C>T | |
| NM_001362931.2:c.695-26965C>T | NP_001349860.1:n.695-26965C>T |